U.S. flag

An official website of the United States government

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) AND BBS2-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 8, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004530646.2

Allele description [Variation Report for NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)]

NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

Gene:
BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
HGVS:
  • NC_000016.10:g.56484820G>A
  • NG_009312.2:g.40205C>T
  • NM_001377456.1:c.2107C>T
  • NM_031885.5:c.2107C>TMANE SELECT
  • NP_001364385.1:p.Arg703Ter
  • NP_114091.3:p.Arg703Ter
  • NP_114091.4:p.Arg703Ter
  • NC_000016.9:g.56518732G>A
  • NG_009312.1:g.40464C>T
  • NM_031885.3:c.2107C>T
  • NM_031885.4:c.2107C>T
  • NR_165293.1:n.2397C>T
  • NR_165294.1:n.2394C>T
  • NR_165295.1:n.2225C>T
  • NR_165296.1:n.2097C>T
  • NR_165297.1:n.2097C>T
Protein change:
R703*
Links:
dbSNP: rs567573386
NCBI 1000 Genomes Browser:
rs567573386
Molecular consequence:
  • NR_165293.1:n.2397C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165294.1:n.2394C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165295.1:n.2225C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165296.1:n.2097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165297.1:n.2097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001377456.1:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_031885.5:c.2107C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
BBS2-related disorder
Synonyms:
BBS2-Related Disorders; BBS2-related condition
Identifiers:
MedGen: CN239228

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004744331PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jan 8, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004744331.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BBS2 c.2107C>T variant is predicted to result in premature protein termination (p.Arg703*). This variant has been reported in the homozygous state or with a second BBS2 variant in individuals with Bardet-Biedl syndrome (Deveault et al. 2011. PubMed ID: 21344540; Supplemental Table 1, Forsythe et al. 2016. PubMed ID: 27659767; Table S3, Fu et al. 2022. PubMed ID: 36307859) and reported in the homozygous state in an individual with retinitis pigmentosa (Xu et al. 2015. PubMed ID: 25999675). In addition, at PreventionGenetics, this variant has been seen in the homozygous or compound heterozygous states in individuals with features of Bardet-Biedl syndrome (Internal Data). This variant is reported in 0.027% of alleles in individuals of East Asian descent in a large population database. Nonsense variants in BBS2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024